Super M, Swindlehurst C
Am J Med Genet. 1984 Jul;18(3):449-53. doi: 10.1002/ajmg.1320180314.
The high incidence of carriers of cystic fibrosis in the general population allows application of a less than perfect test to genetic counselling of relatives of children with the disorder and their spouses. In the absence of a definitive carrier detection test, we employ isoelectric focusing of serum in this way and include the a priori chance of carrier status in calculating the risk. The test will eventually be replaced but for the present is preferable in our hands to counselling based simply on the known gene frequency.
囊性纤维化基因携带者在普通人群中的高发病率，使得在对患有该疾病儿童的亲属及其配偶进行遗传咨询时，可以应用一种并非完美的检测方法。在缺乏确定性的携带者检测试验的情况下，我们采用血清等电聚焦法，并在计算风险时纳入携带者状态的先验概率。该检测最终将会被取代，但就目前而言，在我们手中它比单纯基于已知基因频率进行咨询更为可取。
